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HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 [ Homo sapiens (human) ]

Gene ID: 3188, updated on 7-Apr-2024

Summary

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Official Symbol
HNRNPH2provided by HGNC
Official Full Name
heterogeneous nuclear ribonucleoprotein H2provided by HGNC
Primary source
HGNC:HGNC:5042
See related
Ensembl:ENSG00000126945 MIM:300610; AllianceGenome:HGNC:5042
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FTP3; MRXSB; NRPH2; HNRPH'; HNRPH2; hnRNPH'
Summary
This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that binds to RNAs. It is very similar to the family member HNRPH1. This gene is thought to be involved in Fabray disease and X-linked agammaglobulinemia phenotype. Alternative splicing results in multiple transcript variants encoding the same protein. Read-through transcription between this locus and the ribosomal protein L36a gene has been observed. [provided by RefSeq, Jan 2011]
Expression
Ubiquitous expression in brain (RPKM 50.7), adrenal (RPKM 42.7) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
Xq22.1
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (101408222..101414133)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (99852337..99858248)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (100663210..100669121)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RPL36A-HNRNPH2 readthrough Neighboring gene ribosomal protein L36a Neighboring gene galactosidase alpha Neighboring gene armadillo repeat containing X-linked 4 Neighboring gene peptidylprolyl isomerase A pseudogene 90 Neighboring gene PRKCI pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental Disorder. Gonzalez JN, et al. Genes (Basel), 2023 May 26. PMID 37372334, Free PMC Article
  2. HNRNPH2-Related Neurodevelopmental Disorder. Adam MP, et al. , 1993. PMID 36108116
  3. Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males. Kreienkamp HJ, et al. Hum Genet, 2022 Feb. PMID 34907471, Free PMC Article
  4. Development and Pilot Screen of Novel High Content Assay for Down Regulators of Expression of Heterogenous Nuclear Ribonuclear Protein H2. Diez J, et al. Cell Physiol Biochem, 2021 May 19. PMID 34014051
  5. Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2. Somashekar PH, et al. Am J Med Genet A, 2020 Jan. PMID 31670473, Free PMC Article

See all (163) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The RNA-binding proteins hnRNP H and F regulate splicing of a MYC-dependent HRAS exon in prostate cancer cells.
    Title: The RNA-binding proteins hnRNP H and F regulate splicing of a MYC-dependent HRAS exon in prostate cancer cells.
  2. Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental Disorder.
    Title: Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental Disorder.
  3. Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
    Title: Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
  4. Development and Pilot Screen of Novel High Content Assay for Down Regulators of Expression of Heterogenous Nuclear Ribonuclear Protein H2.
    Title: Development and Pilot Screen of Novel High Content Assay for Down Regulators of Expression of Heterogenous Nuclear Ribonuclear Protein H2.
  5. Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2.
    Title: Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2.
  6. Results from a study on gene expression variability markers in early-stage human embryos shows that HNRNPH2 is a putative marker for the 3-day, 8-cell embryo stage.
    Title: Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.
  7. identification of six females from independent families with a common neurodevelopmental phenotype including developmental delay, intellectual disability, autism, hypotonia, and seizures, all with de novo predicted deleterious variants in the nuclear localization signal of Heterogeneous Nuclear Ribonucleoprotein H2, encoded by HNRNPH2, a gene located on the X chromosome
    Title: Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.
  8. Data indicate that armadillo repeat protein ARVCF interacts with the splicing factors the splicing factor SRSF1 (SF2/ASF), the RNA helicase p68 (DDX5), and the heterogeneous nuclear ribonucleoprotein hnRNP H2.
    Title: Nuclear ARVCF protein binds splicing factors and contributes to the regulation of alternative splicing.
  9. altered function of hnRNP H1/H2 in tumor cells is a novel determinant of aberrant thymidine phosphorylase splicing thereby resulting in acquired chemoresistance to TP-activated fluoropyrimidine anticancer drugs.
    Title: Heterogeneous nuclear ribonucleoprotein H1/H2-dependent unsplicing of thymidine phosphorylase results in anticancer drug resistance.
  10. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify heterogeneous nuclear ribonucleoprotein H2 (HNRNPH2), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify heterogeneous nuclear ribonucleoprotein H2 (HNRNPH2), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Nef nef Tandem affinity purification and mass spectrometry analysis identify heterogeneous nuclear ribonucleoprotein H2 (HNRNPH2), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify heterogeneous nuclear ribonucleoprotein H2 (HNRNPH2), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Rev rev HIV-1 Rev interacting protein, heterogeneous nuclear ribonucleoprotein H2 (HNRNPH2), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with HNRNPH2 is increased by RRE PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Readthrough RPL36A-HNRNPH2

Readthrough gene: RPL36A-HNRNPH2, Included gene: RPL36A

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in regulation of RNA splicing IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in membrane HDA PubMed 
is_active_in nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus TAS
Traceable Author Statement
more info
 PubMed 
located_in postsynaptic density IEA
Inferred from Electronic Annotation
more info
  
part_of ribonucleoprotein complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of ribonucleoprotein complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
heterogeneous nuclear ribonucleoprotein H2
Names
FTP-3
epididymis secretory sperm binding protein
heterogeneous nuclear ribonucleoprotein H-prime
heterogeneous nuclear ribonucleoprotein H2 (H')
hnRNP H'
hnRNP H2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016327.1 RefSeqGene

    Range
    5020..10931
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001032393.3 → NP_001027565.1  heterogeneous nuclear ribonucleoprotein H2

    See identical proteins and their annotated locations for NP_001027565.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AA758785, AL035422, BU167621, U01923
    Consensus CDS
    CCDS14485.1
    UniProtKB/Swiss-Prot
    A1L400, P55795, Q9HHA7
    UniProtKB/TrEMBL
    A0A384MDT2, B4DFK9
    Conserved Domains (4) summary
    pfam08080
    Location:257 → 290
    zf-RNPHF; RNPHF zinc finger
    cd12729
    Location:10 → 88
    RRM1_hnRNPH_hnRNPH2_hnRNPF; RNA recognition motif 1 (RRM1) found in heterogeneous nuclear ribonucleoprotein hnRNP H , hnRNP H2, hnRNP F and similar proteins
    cd12731
    Location:103 → 192
    RRM2_hnRNPH_hnRNPH2_hnRNPF; RNA recognition motif 2 (RRM2) found in heterogeneous nuclear ribonucleoprotein hnRNP H, hnRNP H2, hnRNP F and similar proteins
    cd12734
    Location:289 → 364
    RRM3_hnRNPH_hnRNPH2_hnRNPF; RNA recognition motif 3 (RRM3) found in heterogeneous nuclear ribonucleoprotein hnRNP H , hnRNP H2, hnRNP F and similar proteins

  2. NM_019597.5 → NP_062543.1  heterogeneous nuclear ribonucleoprotein H2

    See identical proteins and their annotated locations for NP_062543.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AA758785, AL035422, DA686966, U01923
    Consensus CDS
    CCDS14485.1
    UniProtKB/Swiss-Prot
    A1L400, P55795, Q9HHA7
    UniProtKB/TrEMBL
    A0A384MDT2, B4DFK9
    Related
    ENSP00000361927.2, ENST00000316594.6
    Conserved Domains (4) summary
    pfam08080
    Location:257 → 290
    zf-RNPHF; RNPHF zinc finger
    cd12729
    Location:10 → 88
    RRM1_hnRNPH_hnRNPH2_hnRNPF; RNA recognition motif 1 (RRM1) found in heterogeneous nuclear ribonucleoprotein hnRNP H , hnRNP H2, hnRNP F and similar proteins
    cd12731
    Location:103 → 192
    RRM2_hnRNPH_hnRNPH2_hnRNPF; RNA recognition motif 2 (RRM2) found in heterogeneous nuclear ribonucleoprotein hnRNP H, hnRNP H2, hnRNP F and similar proteins
    cd12734
    Location:289 → 364
    RRM3_hnRNPH_hnRNPH2_hnRNPF; RNA recognition motif 3 (RRM3) found in heterogeneous nuclear ribonucleoprotein hnRNP H , hnRNP H2, hnRNP F and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    101408222..101414133
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    99852337..99858248
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P55795.1 GenPept UniProtKB/Swiss-Prot:P55795

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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